combined oxidative phosphorylation deficiency 21

Term ID

DOID:0111465

Synonyms

• COXPD21

Definition

A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. https://www.ncbi.nlm.nih.gov/pubmed/24827421

References

• OMIM:615918
• ORDO:420733

Ontology

Human Disease   ( DOID:0111465 )